World’s largest respiratory genetics study launches on World COPD Day

Researchers funded by the Medical Research Council (MRC) are to conduct the largest ever study of the genetics relating to lung disease. The main aims are to discover what determines an individual’s lung health and why smoking harms the lungs of some people more than others.

The scientists, from the University of Nottingham, the University of Leicester, and St George’s, University of London, hope to find out why some people are genetically more prone to suffer from lung disease, particularly chronic obstructive pulmonary disease (COPD). COPD includes conditions such as chronic bronchitis and emphysema and is the sixth most common cause of death in the UK (around 30,000 deaths per year). It affects approximately 900,000 people in the UK and costs the NHS £500m every year.

The World Health Organization (WHO) estimates that COPD is the fourth leading cause of death worldwide (after coronary heart disease, cerebrovascular disease and acute respiratory infection) but it is predicted to move into third place in the near future. Today (Wednesday 14 November) is World COPD Day.

The project aims to discover the genes that affect lung function, and also those that may affect the chances of developing lung disease for both smokers and non-smokers. It will also investigate whether genes play a part in the ability, or the failure, to maintain good lung health for both smokers and non-smokers. The researchers will also be able to investigate genetic factors that may affect the likelihood of an individual becoming addicted to smoking.

The study, which is called UK BiLEVE (UK Biobank Lung Exome Variant Evaluation), will be one of the first projects to make use of UK Biobank, which holds health information from half a million volunteers and is the world’s largest data resource of its kind.

All UK Biobank participants have already had their lung function measured and given information about their smoking habits, past and present. In this study researchers will use the anonymous data from 50,000 of these participants to determine genetic variants associated with susceptibility to COPD. They will look at both rare and common single nucleotide polymorphisms (tiny variations in genes) in the participants’ DNA and the lung function of those who are heavy smokers and those who have never smoked.

Lead researcher and dean of Nottingham Medical School Professor Ian Hall said: “We currently know very little about why there is such a wide difference in lung health even among smokers. It may have something to do with genetics so we’re extremely excited about using the unique resource of UK Biobank to test this theory. This study couldn’t be done anywhere else in the world.”

Professor David Lomas, chair of the MRC Population and Systems Medicine Board, said: “We know that smoking is unhealthy for anyone but we know little about why the lungs of most smokers are seriously affected, while those of some seem to stay relatively healthy. If we knew more about the genetics that cause this variation we would be better able to direct treatments to those who are most at risk and have an increased chance of developing drugs to target this type of lung disease.”

Professor Sir Rory Collins, UK Biobank principal investigator, said: “We are extremely grateful to the half a million people throughout Britain who went out of their way to join UK Biobank. Their commitment will provide key insights into a wide range of illnesses that kill and cause pain and suffering. Last week we heard of plans to use the resource to study dementia. This week UK Biobank helps scientists tackle a serious lung condition. UK Biobank will become a key resource to improve health in the 21st century. We are grateful to the MRC, Wellcome Trust and Department of Health for having the vision to back such an initiative.”